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FZD2 (frizzled class receptor 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2535
Gene nameGene Name - the full gene name approved by the HGNC.
Frizzled class receptor 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FZD2
SynonymsGene synonyms aliases
Fz2, OMOD2, fz-2, fzE2, hFz2
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
SummarySummary of gene provided in NCBI Entrez Gene.
This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that i
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1223920489 G>A Likely-pathogenic Coding sequence variant, missense variant
rs1555657045 G>A Likely-pathogenic Stop gained, coding sequence variant
rs1555657073 G>T Likely-pathogenic Coding sequence variant, missense variant
rs1555657074 GC>TT Likely-pathogenic Coding sequence variant, missense variant
rs1568105562 T>G Likely-pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT718685 hsa-miR-130b-5p HITS-CLIP 19536157
MIRT718684 hsa-miR-6721-5p HITS-CLIP 19536157
MIRT718683 hsa-miR-2117 HITS-CLIP 19536157
MIRT718682 hsa-miR-4425 HITS-CLIP 19536157
MIRT718681 hsa-miR-3147 HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003149 Process Membranous septum morphogenesis IEA
GO:0003150 Process Muscular septum morphogenesis IEA
GO:0003151 Process Outflow tract morphogenesis IEA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 25417160, 27680706, 29748286
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q14332
Protein name Frizzled-2 (Fz-2) (hFz2) (FzE2)
Protein function Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activat
PDB 6C0B , 7N95 , 7N97 , 7N9S , 7X8P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz
39 146
Fz domain
Domain
PF01534 Frizzled
235 555
Frizzled/Smoothened family membrane region
Family
Sequence
Sequence length 565
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Ca2+ pathway
Asymmetric localization of PCP proteins
Disassembly of the destruction complex and recruitment of AXIN to the membrane
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 21188121
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia
Ambiguous genitalia Ambiguous Genitalia rs782562963
Anodontia Developmental absence of tooth
Avascular necrosis of the capital femoral epiphysis Avascular necrosis of the capital femoral epiphysis

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